Incidental Mutation 'IGL02867:Prima1'
ID 362370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prima1
Ensembl Gene ENSMUSG00000041669
Gene Name proline rich membrane anchor 1
Synonyms B230212M13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02867
Quality Score
Status
Chromosome 12
Chromosomal Location 103163167-103208409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103163575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 132 (V132A)
Ref Sequence ENSEMBL: ENSMUSP00000074017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074416] [ENSMUST00000127843] [ENSMUST00000156176]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074416
AA Change: V132A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000074017
Gene: ENSMUSG00000041669
AA Change: V132A

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:PRIMA1 37 153 2.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123655
Predicted Effect probably benign
Transcript: ENSMUST00000127843
SMART Domains Protein: ENSMUSP00000114309
Gene: ENSMUSG00000041669

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 55 78 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156176
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T A 5: 24,776,149 (GRCm39) Y310F probably benign Het
Adarb1 C T 10: 77,149,375 (GRCm39) V371I probably benign Het
Antxr2 G T 5: 98,125,509 (GRCm39) H249Q probably benign Het
Arel1 A T 12: 84,981,097 (GRCm39) N303K probably benign Het
Bloc1s6 T C 2: 122,584,604 (GRCm39) Y60H probably damaging Het
Ccdc125 A T 13: 100,820,790 (GRCm39) probably benign Het
Cxcl16 A T 11: 70,349,892 (GRCm39) Y45N possibly damaging Het
Dnajb3 T A 1: 88,133,249 (GRCm39) Q51L probably benign Het
Ear10 A G 14: 44,160,726 (GRCm39) F34L probably damaging Het
Fgf11 A G 11: 69,690,498 (GRCm39) S100P possibly damaging Het
Fpgs G A 2: 32,575,891 (GRCm39) probably benign Het
Fyb1 A T 15: 6,609,527 (GRCm39) Q33H probably damaging Het
Ints3 G T 3: 90,300,143 (GRCm39) H925N probably damaging Het
Krt16 T C 11: 100,138,402 (GRCm39) K249E probably damaging Het
Lrp2 A T 2: 69,382,794 (GRCm39) S30R possibly damaging Het
Naa35 T C 13: 59,756,668 (GRCm39) probably benign Het
Or11g27 A G 14: 50,770,970 (GRCm39) I34V probably benign Het
Or1e22 A G 11: 73,376,817 (GRCm39) Y278H probably damaging Het
Or8g2b A G 9: 39,751,533 (GRCm39) M268V probably benign Het
Osbpl6 A G 2: 76,426,214 (GRCm39) probably benign Het
Pramel6 A T 2: 87,340,736 (GRCm39) Q356L probably damaging Het
Psme1 A G 14: 55,817,383 (GRCm39) probably benign Het
Rdh11 A G 12: 79,235,828 (GRCm39) V40A possibly damaging Het
Rin1 C T 19: 5,103,198 (GRCm39) R485C probably damaging Het
Rnf40 C A 7: 127,190,601 (GRCm39) S255* probably null Het
Spata24 C A 18: 35,789,805 (GRCm39) R194L probably benign Het
Spata31h1 C T 10: 82,119,654 (GRCm39) S482N probably damaging Het
Tas1r1 A T 4: 152,112,735 (GRCm39) S773T probably damaging Het
Trdv5 G T 14: 54,386,429 (GRCm39) probably benign Het
Trpc3 A C 3: 36,694,850 (GRCm39) D701E probably benign Het
Vim A G 2: 13,585,491 (GRCm39) R424G probably damaging Het
Vmn1r216 A C 13: 23,283,649 (GRCm39) T111P probably damaging Het
Zbtb26 A C 2: 37,326,261 (GRCm39) N247K probably benign Het
Zfp629 T G 7: 127,209,203 (GRCm39) probably benign Het
Other mutations in Prima1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Prima1 APN 12 103,169,047 (GRCm39) splice site probably null
IGL02889:Prima1 APN 12 103,163,575 (GRCm39) missense probably benign 0.01
R0566:Prima1 UTSW 12 103,163,573 (GRCm39) missense probably benign 0.01
R1585:Prima1 UTSW 12 103,201,854 (GRCm39) missense probably damaging 0.96
R2135:Prima1 UTSW 12 103,168,949 (GRCm39) missense probably damaging 1.00
R5057:Prima1 UTSW 12 103,168,864 (GRCm39) splice site probably null
R5605:Prima1 UTSW 12 103,166,163 (GRCm39) missense probably benign 0.01
R6850:Prima1 UTSW 12 103,163,594 (GRCm39) missense probably benign 0.41
R7577:Prima1 UTSW 12 103,163,566 (GRCm39) missense probably damaging 1.00
R7671:Prima1 UTSW 12 103,201,920 (GRCm39) missense probably damaging 0.98
R8559:Prima1 UTSW 12 103,163,512 (GRCm39) missense possibly damaging 0.92
Posted On 2015-12-18